84-2412-77　［取扱停止］WBSCR11 (General Transcription Factor II-I Repeat Domain-Containing Protein 1, GTF2I Repeat Domain-Containing Protein 1, General Transcription Factor III, MusTRD1/BEN, Muscle TFII-I Repeat Domain-Containing Protein 1, Slow-muscle-fiber Enhancer-Binding Protein, USE B1-Binding Protein, Williams-Beuren Syndrome Chromosomal region 11 Protein, Williams-Beuren Syndrome ...　226688

特徴

• Williams-Beuren syndrome (WBS) is a developmental disorder caused by the hemizygous microdeletion on chromosome 7q11.23.
• WBS is an autosomal dominant genetic condition that is characterized by physical, cognitive and behavioral traits.
• The physical traits associated with WBS include facial dysmorphology, vascular stenoses, growth deficiencies, dental anomalies and neurologic and musculoskeletal abnormalities.
• Mild retardation, a weakness in visual-spatial skills, anxiety and a short attention span are typical cognitive and behavioral traits of WBS patients.
• The WBSCR11 gene is located within the WBS deletion and may contribute to the developmental symptoms found in WBS because of a loss of the encoded transcription factor.
• WBSCR11 is also designated GRF2IRD1, GTF3, Cream1 and MusTRD1 in human and BEN in mouse, due to slight differences in gene structure.
• WBSCR11 is expressed in all adult tissues as several variants and has discrete spatial and temporal expression during embryogenesis.
• Applications:Suitable for use in Western Blot.
• Other applications not tested.
• Recommended Dilution:Western Blot: 1:500-1:1000Optimal dilutions to be determined by the researcher.
• Storage and Stability:May be stored at 4°C for short-term only.
• Aliquot to avoid repeated freezing and thawing.
• Store at -20°C.
• Aliquots are stable for 12 months after receipt.
• For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.